ClinVar Miner

List of variants reported as uncertain significance for astigmatism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) rs1554163965
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324

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